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This Week in Science: Sep 5, 2008

Large-scale cancer genome projects are now providing new information about glioblastomas and pancreatic cancer. A team led by Johns Hopkins' Kenneth Kinzler sequenced 20,661 protein coding genes from glioblastomas and found that 12 percent of the patients had similar mutations in the active site of isocitrate dehydrogenase 1. A study published online in Nature from Lynda Chin of Dana-Farber also looked at genetic alterations in glioblastoma samples and found many of the same gene alterations, though not IDH1. The same Hopkins group also reports on a genetic analysis of pancreatic cancers. They sequenced the transcripts of 20,661 protein-coding genes and used microarrays to look for deletions and amplifications. Pancreatic cancers, they report, have about 63 genetic alterations which often affect the same 12 signaling pathways.

Yale researchers found that gene fusions, arising out of chromosomal rearrangements, can mimic trans-splicing of RNAs. These gene fusions are common in human tumors and the chimeric proteins resulting from them are often considered abnormal and tumor-specific. The researchers compared chimeric RNA from normal endometrial stromal cells to gene fusions found in stromal tumors and found that they are identical. They suggest that some fusions are pro-neoplastic since they are constitutively expression rather than produced through trans-splicing.

Scientists led by James Noonan report on human-specific gain of function mutations in an otherwise highly conserved domain among terrestrial vertebrates. By studying transgenic mice, they saw that a conserved noncoding sequence that evolved rapidly in humans acts as an enhancer for a limb expression domain and includes the anterior wrist and proximal thumb. Chimpanzees studied with synthetic human-specific enhancers showed that 13 substitutions among 81-base pairs was enough to give human-specific limb expression.


The Scan

Renewed Gain-of-Function Worries

The New York Times writes that the pandemic is renewing concerns about gain-of-function research.

Who's Getting the Patents?

A trio of researchers has analyzed gender trends in biomedical patents issued between 1976 and 2010 in the US, New Scientist reports.

Other Uses

CBS Sunday Morning looks at how mRNA vaccine technology could be applied beyond SARS-CoV-2.

PLOS Papers Present Analysis of Cervicovaginal Microbiome, Glycosylation in Model Archaea, More

In PLOS this week: functional potential of the cervicovaginal microbiome, glycosylation patterns in model archaea, and more.